Hereditary gastrointestinal stromal cancer (GIST) [2 genes]
The majority of families who have a predisposition towards GIST present mutations in the KIT gene, with an autosomal inheritance pattern. In some families, however, the risk is due to mutations in PDGFRA, therefore being recommended to analyze simultaneously both genes
Priority Genes : Genes where there is sufficient evidence (clinical and functional) to consider them associated with the disease; they are included in the clinical practice guidelines.
Secondary Genes: Genes related to the disease, but with a lower level of evidence or that constitute sporadic cases.
* Candidate Genes: Not enough evidence in humans, but potentially associated with the disease.